ANORECTAL MALFORMATIONS:

CLASSIFICATION & EVALUATION

CLASSIFICATION
 Planning of surgery and the procedure itself
 Comparing the clinical results of one technique with
those of another
 Multiple classifications

 Amussat (1835)
 Stieda (1903)
 Jones (1904)
 Breener (1915) Clinical classifications

 Frazer (1926)
 Ladd & Gross (1934)
THE FIRST CLASSIFICATION
SYSTEM
 Amussat , the father of the proctoplasty (1835) described
5 groups
 A narrowed anus
 A closed anal membrane
 Rectum interrupted by a septum at some distance
from the opening
 Imperforate anus
 Presence of a rectal fistula
 Ladd & Gross (1934)
Type Anomaly
I Anal & anorectal stenosis
II Imperforate anus
III Imperforate anus with blind ending pouch with
fistula
IV Rectal atresia

Denis Browne stressed the necessity of classifying Ladd III type of

ARM to high & low depending upon whether the gut terminated
above or below the pelvic floor
STEPHENS AND SMITH CLASSIFICATION
(1963)
 Melbourne classification
 Based on embryological concepts
 Recognises the importance of the puborectalis muscle
and its effects in continence
 Lesions above pubococcygeal (PC) line were
described as high, below as low
 Stephens pioneered the sacrococcygeal approach in
order to preserve the puborectalis
 This classification is deficient in clinical information
 “intermediate” as later added
 STEPHENS AND SMITH CLASSIFICATION (1963)
Male Female
Anorectal deformities
A . Defect of the partition of the internal cloaca
1. Anorectal agenesis(no fistula) 1. Anorectal agenesis(no fistula)
2. Rectovesical fistula 2. Rectovesical fistula
3. Rectourethral fistula 3. Rectourethral fistula
4. Rectovaginal fistula
5. Rectovestibular fistula

B. Secondary defects after partition

Rectal atresia Rectal atresia
Rectal deformities
A. Defects of perineum
1. Anterior perineal anus 1. Anterior perineal anus . perineal,/ vulvar

2. Anovestibular fistula
3. Perineal groove
4. Perineal canal
B. Defects of genital folds
1. Covered anus complete 1. Covered anus complete
2. Anocutaneous fistula 2. Anocutaneous fistula
3. Anobulbar fistula 3. Anovulvar fistula
C. Defects of thep roctodeal pit
1. Anorectal agenesis 1. Anorectal agenesis
2. Imperforate anal membrane 2. Imperforate anal membrane
3. Anal stenosis (i) covered anal stenosis (ii) anal membrane 3. Anal stenosis (i) covered anal stenosis (ii) anal membrane
stenosis (iii) anorectal stenosis stenosis (iii) anorectal stenosis

Unclassified
1. Vesicointestinal fissure
2. Duplication of the rectum and anus
3. Combination of usual deformities
 Santulli (1964)
 Based on the work of Ladd & Gross
 Divided lesions into low, infralevator & high, supralevator

 International classification (1970)

 Proposed at a symposium on ARM at the pediatric surgical
congress in Melbourne
 Based on the work of Smith & Stephens
 Based on the principles of normal & abnormal anatomy
 Divided the lesions into 3 groups
 Contains ~ 40 subtypes
 Santulli classification
Type of anomaly Female
Low, infralevator I. Anal stenosis
II. Anal membrane
III. Anal agenesis
A. with out fistula
B. with fistula
High, supralevator I. Rectal agenesis
A. without fistula
B. with fistula
II. Rectal atresia
Male
I. Anal stenosis
II. Anal membrane
III. Anal agenesis
A. with out fistula
B. with fistula
I. Rectal agenesis
A. without fistula
B. with fistula
II. Rectal atresia
 International classification
Type of anomaly Female Male
High 1.Anorectal agenesis 1.Anorectal agenesis
A. rectal atresia A. rectal atresia
B. with fistula B. with fistula
Rectocloacal fistula Rectovesical fistula
Rectovaginal/high Rectourethral fistula
2. Rectal atresia 2. Rectal atresia

Intermediate 1. Anal agenesis 1. Anal agenesis

A. without fistula A. without fistula
B. with fistula B. with fistula
rectovaginal fistula/low rectobulbar fistula
rectovestibular fistula
2. Anorectal stenosis 2. Anorectal stenosis

Low 1.At normal anal site 1.At normal anal site

covered anus - complete covered anus - complete
covered anal stenosis covered anal stenosis
2.At perineal site 2.At perineal site
anocutaneous fistula anocutaneous fistula
anterior perineal anus anterior perineal anus
3.At vulvar site
vulvar anus
anovulvar fistula
anovestibular fistula

Miscellaneous Anal membrane stenosis Anal membrane stenosis

Imperforated anal membrane Imperforated anal membrane
Perineal groove Perineal groove
Perineal canal Perineal canal
 Covered anus
 Normally placed anus that is covered by excessive
development of the genital folds or a fused congenital median
band (Smith et al. 1970)
 Covered anus incomplete – low perineal cutaneous fistula

 Perineal groove
 Normal vestibule with a groove extending from the vestibule
to the anus ( anus – normal size, position)
 Perineal canal
 Normal anus and vestibule with the presence of a fistula from
the anal canal to the fossa navicularis
 Ectopic anus
 Stenosed anus that has migrated to the vulva or vestibule in
female (or) any abnormally positioned anal opening in the male
 Also described as anterior displacement of anus , anterior
ectopic anus
 Anal index of < 0.34 in girls & < 0.46 in boys

 Controversies
 Based on the embryological & histological evidence of hindgut
development (Kulth’s) any abnormal anal opening could be
viewed as an anal fistula
 Pena – normal anus surrounded by a normal voluntary spincter
in an abnormal position does not occur, hence the term in
overused
WINGSPREAD CLASSIFICATION
 Evolved from a conference held in the Wingspread
Convention Centre, Racine, Winconsin (USA) in 1984
 Rarer subtypes were removed

 Cloacal lesion was placed in a separate class

 Wingspread Conference classification
Type of anomaly Female Male

High 1.Anorectal agenesis 1.Anorectal agenesis

A. Rectovaginal fistula
B. without fistula
2. Rectal atresia
Intermediate 1. Rectovestibular fistula
2. Rectovaginal fistula
3 Anal agenesis without fistula
A. Rectovesical fistula
B. without fistula
2. Rectal atresia
1. Rectourethral fistula
2. Anal agenesis without fistula

Low 1. Anovestibular (perineal) fistula 1.Anocutaneous (perineal) fistula

2. Anocutaneous (perineal) fistula 2.Anal stenosis
3. Anal stenosis

Miscellaneous Persistent cloacal anomaly Rare malformations

Rare malformations
PENA’S CLASSIFICATION
 Proposed by Alberto Pena, modified by Rintala
 Based on the initial management decision
 Whether colostomy is required or not

Males Females
Perineal (cutaneous) fistula Perineal (cutaneous) fistula
Rectourethral fistula Vestibular fistula
Bulbar
Prostatic

Rectovesical fistula Persistent Cloaca

Imperforate anus without fistula Imperforate anus without fistula
Rectal atresia Rectal atresia
 From practical point of view Pena’s classification allows
a concise and appropriate clinical management plan
 The Wingspread classification allows the anatomical
detail
Males Females
Perineal (cutaneous) fistula Perineal (cutaneous) fistula
Rectourethral fistula Vestibular fistula
Bulbar
Prostatic
Rectobladder neck fistula Persistent Cloaca
</= 3 cm common channel
> 3 cm common channel
Imperforate anus without fistula Imperforate anus without fistula
Rectal atresia Rectal atresia
Complex defects Complex defects
KRICKENBECK CLASSIFICATION

Major clinical groups Perineal (cutaneous) fistula

Rectourethral fistula
(cloaca are uncommon but due to the
significant impact of the potential errors
Bulbar
from an incorrect diagnosis) Prostatic
Rectovesical fistula
Vestibular fistula
Cloaca
No fistula
Anal stenosis
Rare/regional varients Pouch colon
Rectal atresia/stenosis
(less common in westren world yet
common in India and Far East) Rectovaginal fistula
H type fistula
Others
ESSENTIAL FEATURES
 Most female babies with ARM are intermediate and low
anomalies while majority of malformation in males are
high or intermediate anomalies
 In female baby with ARM, rectum or anal canal almost
always opens as fistula either in vagina, vestibule or
perineum, wide enough to permit passage of gas and stool,
therefore these patients may not present as intestinal
obstruction
 In male baby with ARM, rectum may open in bladder
neck, prostatic urethra or bulbar urethra with narrow
fistula insufficient to decompress the colon OR fistula may
not be present at all. These patients present with intestinal
obstruction
ANTENATAL DIAGNOSIS
 Prenatal USG has a low sensitivity and specificity
 The normal anal canal in the fetus can be appreciated on
USG as circular rim of hypoechogenic tissue in the
perineum with central linear echogenic stripe ( Guzman
et al.)
 Absence of this circular rim is described as
imperforate anus
 Sonographic evidence of ARM is nonspecific
 Findings suggestive (not diagnostic) of ARM

 Dilated colon (Harris)

 Oligohydramnios
 Highly distended vagina
 Frequency of concurrent anomalies is high and these are
usually diagnosed.
 Polyhydramnious associated with upper GIT

obstruction
 Sacral anomalies

 Vertebral defects.

 Renal anomalies
NEONATAL ASSESMENT
 Diagnosis of absence of anal opening is usually straight
forward
 It may be missed and discovered at second look when
abdominal distension begins or baby doesnot pass
meconium for 24 hours
 Initial assessment – aims

 To know the level of malformation, in relation to

sphincters and presence of fistula – decision making
for intervention
 To assess associated anomalies
 To assess the integrity of neuromuscular component
ASSESSMENT
 Clinical examination
 Invertogram

 Plain X ray showing presence of gas in other viscera

 Dye study of fistula

 USG

 CT/ MRI

 Endoscopy & electromyography

CLINICAL EVALUATION IN MALE
 Clinical presentation
 h/o meconuria or pneumaturia
 h/o staining of clothing with meconium coming out from an
unidentified orifice
 Abdominal distension & absolute constipation
 Perforation peritonits, septicemia
 h/o regurgitation of feeds with drooling of saliva
 Examination
 General examination
 Assessment of associated anomalies
 Local examination of perineum
 Should be done under good shadowless light

 Baby held in lithotomy position

 Magnifying glasses may be used for inspection of median raphe

CLINICAL EVALUATION IN MALE
 Inspection
 Start at a point where normal anal opening should have been present
 Proceed anteriorly along median raphe
 Following should be noted
 Appearance of perineum

 Natal cleft

 Presence of skin fold or pigmentation at anal dimple

 Configuration of genitalia

 Presence of an orifice on medium raphe from frenulum to anal

dimple
CLINICAL EVALUATION IN MALE
 Inference
 Absent anal orifice with clinical evidence of perineal
or urethral fistula
 Normal looking anal orifice with ARM
 Absent anal orifice with no external evidence to
indicate level of rectum and fistula
 Presence of meconeum or squamous epithelial cells

in voided urine sample

 If urine examination is normal invertogram is must

for decision making

 Decision making in male ARM

Absent anal orifice with evidence of fistula

Findings Diagnosis Decision

•Pinpoint orifice on median raphe Anocutaneous fistula Anoplasty

•Fly speck of meconeum and passage of gas (rarely recto cutaneous
bubble through minute orifice on median raphe fistula) (perineal fistula –
•Fine bluish line on median raphe Pena)
•White epithelial pearls on median raphe

•Stenotic anal orifice hidden in folds at normal Covered anus Anoplasty

site (anal stenosis)
•Bucket handle deformity with or without
meconeum/ staining (anal stenosis
inpredicatable
•Meconium shining through thin skin
•Black eye urethra ( massage of bulbar urethra Rectobulbar urethral Colostomy
revealing meconeum at external meatus fistula
•Atypical hypospadias with cleft scrotum Rectobulbar urethral Colostomy
fistula (invertogram must)
•Meconeum jelly or squamous epithelial cells High ARM colostomy
in voided urine
 Decision making in male ARM

ARM with normal looking anus

Findings Diagnosis Decision

Normal looking anal orifice but Anterior ectopic anus Anoplasty

anteriorly placed & patent (tested by
passing lubricated red rubber catheter)
Red rubber catheter could not be passed Rectal atresia Colostomy
beyond 2 cm
Red rubber catheter could not be passed Imperforate anal membrane Anoplasty
beyond dentate line. (rare)
Presence of bulging anal membrane at
dentate line
Passage of ribbon stool with narrowing Anal membrane stenosis Anoplasty
at dentate line (rare)
Anorectal stenosis (rare) Colostomy
ARM with no external evidence of level of rectum

No meconeum in urine Diagnosis not predicted Invertogram

No external clinical evidence
CLINICAL EVALUATION IN FEMALE
 Presentation
 Baby passes stool through genital orifice with absence of anal
opening
 Abdominal distension ( anorectal agenesis without fistula &
rectal atresia
 h/o passage of stool through normal anal orifice and genital
orifice.
 Decision making nearly predicted by examination of
genitalia and perineum
 Most of female ARM will have fistulous communication
through which they pass meconium
CLINICAL EVALUATION IN FEMALE
 Perineal inspection
 Good shadow less light
 Lithotomy position
 Adequate prior cleaning of genitalia & vestibule (may be full
of meconeum)
 Abnormal orifice in the vestibule is identified by probing
with lubricated red rubber catheter or Hegar’s dilator
 Examination under anaesthesia in cases of closed vulva (may
need midline division of fused labial folds)
 In malformations without fistula (rare) invertogram or
prone cross table X ray is needed
 Decision making in female ARM
Findings Diagnosis Decision
Only 1 orifice seen in vestibule discharging urine & Cloaca Colostomy
meconeum.
Separate vaginal, anal orifice not seen
2 orifices seen. Rectovaginal Colostomy
Urethral & vaginal orifice. fistula, (or
Stool coming out of vagina. rectovestibular
Third opening not present in vestibule fistula with
vaginal atresia)
3 orifices seen seperately.
Urethral , vaginal.
Third orifice seen as fistula or as normal anus
 Findings Diagnosis Decision
Third orifice present as vestibular fistula
Hegar’s dilator put in Rectovestibular fistula ASARP / Colostomy
vestibular orifice goes
upwards and tip cannot be
palpated at anal dimple
Hegar’s dilator put in Anovestibular fistula ASARP (no Colostomy)
vestibular orifice goes ( Vulvar anus – anovulvar
posteriorly and its tip palpable fistula)
at anal dimple

4 orifices seen. Rectovestibular fistula with Colostomy / ASARP

Urethral , 2 vaginal, vestibular separate vagina
orifice
Third orifice seen outside vestibule (perineal fistula)
Normal caliber 3rd orifice sited Anterior perineal anus Anoplasty
forward in perineum near the
vulva
Stenotic anal orifice present Anocutaneous fistula Anoplasty
anteriorly
 Findings Diagnosis Decision
Third orifice seen as normal anal orifice (no intestinal obstruction)
Stool coming out from anal orifice & Perineal canal ASARP
vestibular fistula
Normal anal orifice with red moist Perineal groove Anoplasty
groove between anus and fourchette
Third orifice seen as normal anal orifice (with intestinal obstruction)
Red rubber catheter cannot be passed Rectal atresia Colostomy
beyond 2 cm
Red rubber catheter cannot be passed Imperforate anal membrane Anoplasty
beyond 1 cm
Red rubber catheter cannot be passed Anal membrane stenosis Anoplasty
beyond 1 cm with ribbon stool ( rarely anorectal stenosis)
Stenotic Covered anal stenosis Anoplasty
No external orifice or fistula (rare) needs invertogram
INVERSION RADIORAPHY
 Helps in deciding the level of rectum in relation to
sphincters
 Wangensteen & Rice described in 1930 to indicate the
distance between the gas bubble within the terminal
colon and perineal skin
 Does not provide the essential information i.e.,
relationship of blind ending rectum to the levator ani and
sphincter muscle complex
 Modified by Stephen in 1953, Kelly in 1969
BONY LANDMARKS

 P point : angle of junction of the boomarang – upper border of

pubic symphysis
 C point : point just caudal (5mm) to 5th ossific centre of sacrum
corresponds to coccyx
 I point : anterior , inferior end of comma shaped shadow of
ossified ischium
BONY LANDMARKS

 PC line crosses the iscium through the junction of caudal ¾ and

cranial ¼ of ischial
 In cases of sacral agenesis PC line can be drawn between P point
and the points at junction of caudal ¾ and cranial ¼ of ischial
comma
STEPHENS

PC line crosses through bladder neck, verumontanum, peritoneal

reflection from prostate to rectum in males

PC line crosses through bladder neck, external os of cervix and

peritoneal reflection from vagina to rectum in females
 The I line is drawn through the
I point parallel to the PC line
 Corresponds to the upper
surface of the bulb of the
urethra in the male and the
upper limit of the perineal
body and the level of the
triangular ligament in the
female.
 The triangle bounded by the
PC line and the I point denotes
the radiographic markings of
the levator complex
TECHNIQUE
 Should not be done before 18 hours.
 After birth – baby starts swallowing air with each
breath – air reaches rectum in 4 to 12 hours – rectum
is well distented by 18 hours
 Rectum is collapsed by the muscle tone of the
sphincters that surround its lower end
 A true lateral view of the
pelvis with accurate
centering on greater
trochanter is essential.
 The hips should be
slightly extended so that
femoral shadows are clear
of the pubic ossification
centres
 Baby should be held upside-down (placed in the prone
position) for 3 minutes before taking the film
 To allow gas to displace meconium and rise to the
termination of the pouch
 Barium paste or contrast soaked gauze placed in the
natal cleft
 A catheter may be placed in the urethra to make
delineation of the urethra more obvious.
 Repeat films may be taken if the gas shadow remains
proximal to ischial line and minimal abdominal
distension
PRONE CROSS-TABLE LATERAL X-
RAY

 Described by K L Narasimha Rao et al.

 Baby placed in prone genu pectoral position
 Advantages
1. Positioning is easier
2. Baby remains comfortable in this position
3. Rectum may be pulled in cephalic direction due to gravity
with invertogram
4. In TEF prone position is preferred
INTERPRETATION
Rectal gas shadow
Ends proximal to PC line High anomaly Colostomy
Ends between two lines Intermediate anomaly Colostomy
Crossing the I point Low anomaly Perineal proctoplasty
FALLACIES
 Insufficient time for gas to reach the terminal bowel
 Meconium plug in the terminal gut may produce an
erroneously high shadow if the gas does not displace the
meconium
 Active contraction of the levator ani/sphincter muscle
complex can push the gas shadow higher
 Gas escape through a fistula may confuse the x-ray
 Distortion by x-ray magnification
 Erroneous estimation of level of the lesion inside the sphincter
muscle complex may occur if the pelvic floor muscles are
relaxed or if there is a sacral anomaly
 Gas in the vagina may be mistaken for gas in the distal bowel
PENA
 Prefers to measure skin bowel distance rather than
anatomical landmarks
 Short bowel distance shorter than 1 cm – low

 Short bowel distance more than 1 cm – colostomy

recommended
ULTRASOUND
 Perineal USG
 Determine the position of the terminal colon
 Measure the distance between the terminal colon and
the skin at the anal dimple site
 Provides similar information to the prone, cross
table lateral x-ray
 Limitations
 Application of too much pressure at the anal dimple

site distorts the distance to the terminal colon

 Difficult to visualize colon if decompressed by

surgery or large fistula

ULTRASOUND

 Infracoccygeal scanning technique looking at the pelvic

floor in an axial plain
 Visualizes the terminal colon and its relationship to
the pelvic floor / levator sling
 Cannot demonstrate the presence or site of any
assosiated fistula
CONTRAST STUDIES
 Dye study of fistula
 Not essential as the site of external visible orifice mostly
indicates the pattern of internal anotomy
 In female it may be helpful in distinguishing rectovestbular
from anovestibular fistula
 Can be used to assess the length of fistula in casec of
anorectal stenosis
 Direct puncture of the distal bowel via the perineum to
identify the level of the termina colon
 Not preferred because of its invasiveness
A . Anovestibular fistula B . Rectovestibular fistula
PRELIMINARY ASSESSMENT OF ASSOCIATED
ANOMALIES IN NEONATAL PERIOD
 EA – ruled out by passage of no. 8 red rubber tube
catheter down to stomach
 Babygram
 Spine & skeletal anomaly
 Chest & abdomen
 Gas in other viscera – in bladder indicates
rectovesical fistula
 Pouch colon
 USG

 2D Echocardiogram
ASSESSMENT AFTER COLOSTOMY
 Anatomy of terminal colon & fistula
 Pressure –Augmented colostogram
 Integrity of neuromuscular component and development
of sphincters
 Detailed evaluation of associated anomalies
PRESSURE-AUGMENTED
COLOSTOGRAM
 First described by Cremin et al. in 1972
 Safe technique

 Technique
 Distal loop of colostomy thoroughly washed with saline to
ensure complete evacuation of any residual fecal matter in the
rectum
 A balloon catheter passed in distal stoma, inflated and
traction applied to occlude the stoma
 Patient positioned in true lateral view of pelvis
 Water-soluble contrast is injected under constant gentle
pressure until a fistula is filled and visualised with the aid of
flouroscopy
Distal cologram performed with insufficient volume and pressure fails to
demonstrate the fistula. Repeat film with adequate volume & pressure
demonstrated rectobulbar fistula
ASSESSMENT OF SPHINCTERS AND
ITS NERVE SUPPLY
 Radiograph of the sacrum & lumbar spine are obtained for
assessment of levator muscle
 Smith has described a close relationship between
development of sacrum and extent of formation of levator
muscle
 In cases in whom sacral segments are dysmorphic, fused, or
hypoplastic, innervations is unpredictable
 In such cases Pena suggested the use of a sacral ratio, where
the size of the sacrum is compared to that of the pelvis.
 Lateral ratio is thought to be more reliable, as the sacrum
on the AP view may be foreshortened if the pelvis is
tilted
Deficiency of S4 & S5 Normal innervationof the bladder and
levator ani
Adequate development of the levator
Deficiency of S3,4,5 Variable abnormal nerve & muscle
development
Most patients are incontinent
Deficiency of S1,2 Poorly developed and innervated levator ani
and pelvic floor musculature
Always associated with incontinence
Hemisacral defects Unpredictable innervation and muscle
development
Only 1 or 2 vertebrae Innervations and muscle development
show hemisacral defect adequate
LS MMC Serious defect in innervation
Anterior sacral MMC Significant abnormaliries of the pelvic floor
(Currarino syndrome)
 SACRAL RATIO (PENA)

AP & lateral x-rays of pelvis demonstrating the measurement of sacral ratio

Calculated by dividing the distance from the inferior most point of the sacrum to the
lowest point of the sacroiliac joints (YZ), by the distance from the iliac crests to the
lowest point of the sacroiliac joints(XY). Sacral ratio = YZ/XY

Mean values : 0.74 & 0.77…… <0,50 decreased chance of normal function
CLINICAL ASSESSMENT OF SACRAL
OUTFLOW
 Sacral segments S 2,3,4 innervate both the levator ani and sphincter
muscles & bladder sphincter,
 Abnormalities of bladder sphincter function can be used to predict
anal sphincter muscle complex function
 Neurological abnormalities affecting the bladder
 Continuous dribbling of small volumes through a patulous
urethra ,
 Overflow leakage with a firm full bladder that empties
irregularly in episodes upto 1 – 2 hrs
 Ability to express it by manual pressure.
 Neurological assessment of the sphincter muscles can also be
determined by response to pinprick stimulation of the perineal skin,
absence of which predicts abnormal sacral outflow
 IMAGING-PELVIC FLOOR & SPHINCTER
MUSCLE

Coronal reconstruction of a CT pelvis

Coronal T 1 weighted MRI

ASSESSMENT OF ASSOCIATED
ANOMALIES
 ~50%
 May be life threatening or have a greater impact in
quality of survival
 Some are obvious an clinical examination

 Limb anomalies in VACTERL complex

 Myelomeningocele
 Exompholos
 Cardiac anomalies
 Passage of an orogastric tube to exclude presence of
EA
 Some are detected on screening investigations
ASSESSMENT OF ASSOCIATED
ANOMALIES
 Screening USG of genitourinary tract – delayed for
between 24 and 72 hrs after birth
 Also look for hydrocolpos vaginal or uterine
anomalies
 MCUG to assess VUR, assess bladder in those with
spinal anomalies
 Screening of spine & spinal cord done by radiograph of
the spine & USG of spine and spinal cord . (this
combination is as sensitive as MRI)
 MRI if abnormalities are detected
 Echocardiograph -12% cases have cardiac anomalies
 Normal conus at L2

Abnormally shaped, low lying

conus at L3/L4 level

Sagittal extended field of view USG spine